Int J Med Sci 2020; 17(16):2544-2550. doi:10.7150/ijms.47757 This issue


Guanidinoacetic acid deficiency: a new entity in clinical medicine?

Sergej M. Ostojic1,2✉, Laszlo Ratgeber2, Andras Olah2, Jozsef Betlehem2, Pongras Acs2

1. FSPE Applied Bioenergetics Lab, University of Novi Sad, Novi Sad, Serbia.
2. Faculty of Health Sciences, University of Pecs, Pecs, Hungary.

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Ostojic SM, Ratgeber L, Olah A, Betlehem J, Acs P. Guanidinoacetic acid deficiency: a new entity in clinical medicine?. Int J Med Sci 2020; 17(16):2544-2550. doi:10.7150/ijms.47757. Available from

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Guanidinoacetic acid (GAA, also known as glycocyamine or betacyamine) is a naturally-occurring derivative of glycine and a direct metabolic precursor of creatine, a key player in high-phosphate cellular bioenergetics. GAA is found in human serum and urine, with circulating GAA likely reflects an equilibrium between its endogenous production and utilization/excretion. GAA deficiency (as indicated by low serum GAA) has been reported in various conditions yet this intriguing clinical entity appears to be poorly characterized as yet, either as a primary deficit or a sequel of secondary disease. This minireview article summarizes the inherited and acquired disorders with apparent GAA deficiency and discusses a possible relevance of GAA shortfall in clinical medicine.

Keywords: guanidinoacetic acid, AGAT deficiency, renal failure, epilepsy, traumatic injury